A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507420



Internal ID284139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18406737..18439526hg38UCSC Ensembl
chr11:18428284..18461073hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3832790
hg1932790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17043711
Samples
Known GenesLDHA, LDHC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507420
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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